A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560644



Internal ID16348053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128724520..128782279hg38UCSC Ensembl
Innerchr12:129209065..129266824hg19UCSC Ensembl
Innerchr12:127775018..127832777hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3857760
hg1957760
hg1857760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175749
SamplesNINDS_29
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560644
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer